Department of Biostatistics, Mailman School of Public Health, Columbia University, New York, New York, USA.
Genet Epidemiol. 2010 Sep;34(6):603-12. doi: 10.1002/gepi.20517.
We examine the measurement properties of pooled DNA odds ratio estimates for 7,357 single nucleotide polymorphisms (SNPs) genotyped in a genome-wide association study of postmenopausal breast cancer. This study involved DNA pools formed from 125 cases or 125 matched controls. Individual genotyping for these SNPs subsequently came available for a substantial majority of women included in seven pool pairs, providing the opportunity for a comparison of pooled DNA and individual odds ratio estimates and their variances. We find that the "per minor allele" odds ratio estimates from the pooled DNA comparisons agree fairly well with those from individual genotyping. Furthermore, the log-odds ratio variance estimates support a pooled DNA measurement model that we previously described, although with somewhat greater extra-binomial variation than was hypothesized in project design. Implications for the role of pooled DNA comparisons in the future genetic epidemiology research agenda are discussed.
我们考察了对 7357 个单核苷酸多态性（SNP）进行汇总 DNA 优势比估计的测量特性，这些 SNP 是在绝经后乳腺癌的全基因组关联研究中进行基因分型的。这项研究涉及从 125 例病例或 125 例匹配对照中形成的 DNA 池。这些 SNP 的个体基因分型随后可用于七对 DNA 池中的绝大多数女性，从而提供了比较 DNA 池和个体优势比估计值及其方差的机会。我们发现，来自 DNA 池比较的“每个次要等位基因”优势比估计值与个体基因分型的结果相当吻合。此外，对数优势比方差估计支持我们之前描述的 DNA 池测量模型，尽管与项目设计中假设的情况相比，额外的二项分布变异略大。讨论了 DNA 池比较在未来遗传流行病学研究议程中的作用。
